Variant report

Variant	rs28372028
Chromosome Location	chr4:99459966-99459967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99458682..99461399-chr4:99848606..99851117,2	MCF-7	breast:
2	chr4:99459317..99461488-chr4:99464335..99467316,2	K562	blood:

Variant related genes	Relation type
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10000857	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001528	0.86[EUR][1000 genomes]
rs10005706	0.86[EUR][1000 genomes]
rs10007752	0.90[EUR][1000 genomes]
rs10010485	0.97[EUR][1000 genomes]
rs10029528	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10030396	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031904	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027682	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027707	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17027758	0.86[EUR][1000 genomes]
rs1919212	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28420592	0.93[EUR][1000 genomes]
rs28445981	0.86[EUR][1000 genomes]
rs28483089	0.89[EUR][1000 genomes]
rs28502504	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504661	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550027	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28576181	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28635613	0.83[EUR][1000 genomes]
rs28648419	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28704122	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs28712025	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28758777	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990571	0.97[EUR][1000 genomes]
rs9991086	0.97[EUR][1000 genomes]
rs9993039	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99445200-99461800	Weak transcription	HMEC	breast
2	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
4	chr4:99446800-99461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:99448200-99461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:99449400-99461200	Weak transcription	NHEK	skin
7	chr4:99449400-99464200	Weak transcription	Fetal Brain Female	brain
8	chr4:99449800-99467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:99450200-99467400	Weak transcription	Osteobl	bone
10	chr4:99450400-99461800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:99450400-99465200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:99450800-99468000	Weak transcription	HSMM	muscle
13	chr4:99458200-99465400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:99458600-99460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:99458800-99461200	Enhancers	Brain Substantia Nigra	brain
16	chr4:99458800-99464400	Enhancers	Ovary	ovary
17	chr4:99459000-99468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:99459200-99460600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:99459200-99462000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:99459200-99465000	Weak transcription	Fetal Brain Male	brain
21	chr4:99459200-99468000	Weak transcription	Esophagus	oesophagus
22	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
23	chr4:99459400-99461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:99459600-99465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:99459600-99465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:99459600-99465400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:99459600-99466000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:99459600-99467800	Weak transcription	NHLF	lung
29	chr4:99459800-99460200	Enhancers	Fetal Heart	heart
30	chr4:99459800-99461800	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:99459800-99462000	Weak transcription	Brain Angular Gyrus	brain
32	chr4:99459800-99465400	Weak transcription	Brain Anterior Caudate	brain

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